Browsing "1. Journal Papers" by Author : 3079

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Issue DateTitleJournal Title
2022Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation HUMAN GENETICS
2019Functional Characterization of Pharmcogenetic Variants of Human Cytochrome P450 2C9 in Korean Populations BIOMOLECULES & THERAPEUTICS
2024Multi-locus pathogenic variation identified in a patient with craniosynostosisAMERICAN JOURNAL OF MEDICAL GENETICS PART A
2015Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene EXPERIMENTAL AND MOLECULAR MEDICINE
2015Selective serotonin reuptake inhibitors facilitate ANO6 (TMEM16F) current activation and phosphatidylserine exposurePFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2010The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis JOURNAL OF KOREAN MEDICAL SCIENCE
2008한국인 낭성 섬유증 진단을 위한 표준화된 땀 유발 염소 농도 분석 KOREAN JOURNAL OF LABORATORY MEDICINE
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